Variant ID: 1-55518076-CA-GC

NM_174936.3(PCSK9):c.649_650delinsGC;(p.His217Ala)

This variant was identified in 1 publication




Publications:


Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: H217A
PMID: 20937814
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.649_650delinsGC p.His217Ala missense_variant 4/12 -
ENST00000452118.2 c.*293_*294delinsGC - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1470_1471delinsGC - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.49_50delinsGC p.His17Ala missense_variant 2/10 -
NM_174936.4 c.649_650delinsGC p.His217Ala missense_variant 4/12 -
NR_110451.1 n.308_309delinsGC - non_coding_transcript_exon_variant 2/10 -